Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy by high clinical and genetic heterogeneity. Although many studies reported from East Asian countries, data from West/South Asia remain limited. The current study aimed to summarize available epidemiological, clinical and genetic data of CMT patients in Asia.

We searched PubMed, Scopus, Web of Sciences, Nature, Google Scholar, Science Direct, and Willey for relevant published articles between 2003 until Feb 2023, according to PRISMA guidelines. Articles were screened for epidemiological, clinical and genetic information. Inclusion required published mutation frequency or genetic variant in CMT patients. The Q-Genie tool and Newcastle-Ottawa (NOS) were used to evaluate the quality of genetics and observational studies, respectively.

Out of 320, 32 screened articles met the inclusion criteria. Most studies were reported from China (n = 12), Japan (n=7), and Korea (n=6). The axonal CMT was the frequent type (50%), followed by demyelinating (28%) and intermediate (9%) types. Autosomal dominant (AD) inheritance was observed in 62% of genetically confirmed cases. Frequently mutated genes were GDAP1, MPZ, and JGB1, which have been found mostly in the East Asia.

This systematic review reports substantial knowledge gap in West/South Asian CMT research. The review emphasized the urgent need to use comprehensively of next-generation sequencing (NGS) to uncover new mutations and improve diagnostics in West/South Asian. Future region-specific cohort studies and registries can be essential to identify frequent variants and fill the diagnostic gaps.